Inherited diseases are diseases that are caused by abnormal genetic material, like individual genes and chromosomes that are...
What Is Inherited Retinal Dystrophy? Retinal dystrophies are a group of rare diseases that damage the retina, the light-sensitive layer in the back of your eye. The retina sends signals to your brain so that you can see. Inherited means the condition runs in families. Often these diseases d...
What is thrombocytopenia? What type of bleeding is produced when platelets are markedly reduced? What types of diseases are associated with thrombocytopenia? 1.Diagnosis Name What is the name of the disease/disorder? 2. Explanation What are the reasons for the diagnosis? 3. Caus...
What causes Addison's disease?Addison's disease:Addison's disease is considered to be a rare disease that affects only 1 in a 100,000 people. It also referred to as primary adrenal insufficiency because the adrenal gland don't produce enough hormone. The main hormone produced by the adrenal...
Causes Types Symptoms Diagnosis Treatment Living with Fabry Fabry disease is a rare inherited condition characterized by the toxic accumulation of a fatty substance called globotriaosylceramide (Gb3) in the body’s cells. This buildup impairs organ function, especially in the kidneys and heart. ...
Causes Symptoms Diagnosis Treatment FAQs What is hemolysis? Excessive hemolysis can cause a low amount of RBCs and lead to hemolytic anemia. The medical term hemolysis is defined as the breakdown of red blood cells (RBCs), also known as erythrocytes. Hemolysis usually refers to the natura...
Dr. Tanner:Yes. I do think with the current state of information processing, it will be possible to come up with a risk quotient. But that's a bit far into the future. People are already more or less doing this for other complicated diseases, such as heart disease and diabetes. We te...
This hereditary condition is inherited in an autosomal dominant pattern, meaning that anyone who inherits one gene from one parent for the disease will develop the condition. This condition commonly causes monocytopenia, and it can cause neutropenia (low neutrophils) oraplastic anemia(lack of blood ...
Sickle cell disease is a group of inherited disorders that affect the protein (hemoglobin) in the red blood cells. As a result, the red blood cells have a C-shape, die early and get stuck in small blood vessels. Sickle cell disease causes pain and serious complications, including infections...
In humans, telomere dysfunction features in inherited diseases such as dyskeratosis congenita, which are characterized by defects in the regulation of telomere length. Several DDR pathways are engaged in the processing of deprotected telomeres, including the classical and alternative non-homologous end ...